类风湿关节炎中自然抵抗相关巨噬细胞蛋白1基因多态性

Natural resistance-associated macrophage protein 1 gene polymorphisms in rheumatoid arthritis.

作者信息

Yen Jeng-Hsien, Lin Chia-Hui, Tsai Wen-Chun, Ou Tsan-Teng, Wu Cheng-Chin, Hu Chaur-Jong, Liu Hong-Wen

机构信息

Division of Rheumatology, Department of Internal Medicine, Kaohsiung Medical University Hospital and College of Medicine, Kaohsiung Medical University, No. 100 Zihyou First Road, Kaohsiung 807, Taiwan.

出版信息

Immunol Lett. 2006 Jan 15;102(1):91-7. doi: 10.1016/j.imlet.2005.07.008. Epub 2005 Aug 15.

DOI:10.1016/j.imlet.2005.07.008

PMID:16125248

Abstract

OBJECTIVES

To investigate the association of natural resistance-associated macrophage protein 1 gene (NRAMP1) polymorphisms with rheumatoid arthritis (RA) in Taiwan.

METHODS

NRAMP1 polymorphisms were determined from 113 RA patients and 74 healthy controls using the polymerase chain reaction/restriction fragment length polymorphism method.

RESULTS

The genotype frequencies of NRAMP1 823 C/C, 1703G/G (543D/D), and 1729+55 del 4 TGTG+/+ (244/244) were significantly higher in patients with RA than in controls. Similar findings were also evident in allele frequencies and allele carriage frequencies of 823C, 1703G (543D), and 1729+55 del 4 TGTG+ (244). The associations of these polymorphisms with RA were independent of HLA-DR4. Linkage disequilibria could be found between 823C and 1703G, and between 1703G and 1729+55 del 4 TGTG+. The estimated haplotype frequency of NRAMP1 823C/1703G/1729+55 del 4 TGTG+ was significantly increased in RA patients compared with controls. We also found that patients with 823 C/C had a significantly lower prevalence of rheumatoid nodule than those without 823 C/C.

CONCLUSION

NRAMP1 823C, 1703G (543D), and 1729+55 del 4 TGTG+ (244) are precipitating factors for the development of RA in Taiwan. The estimated NRAMP1 823C/1703G/1729+del 4 TGTG+ haplotype is associated with susceptibility to RA. NRAMP1 823 C/C prevents the development of rheumatoid nodule in RA patients.

摘要

目的

研究台湾地区自然抵抗相关巨噬细胞蛋白1基因（NRAMP1）多态性与类风湿关节炎（RA）的相关性。

方法

采用聚合酶链反应/限制性片段长度多态性方法，对113例RA患者和74例健康对照者进行NRAMP1多态性检测。

结果

RA患者中NRAMP1 823 C/C、1703G/G（543D/D）和1729+55 del 4 TGTG+/+（244/244）的基因型频率显著高于对照组。823C、1703G（543D）和1729+55 del 4 TGTG+（244）的等位基因频率和等位基因携带频率也有类似结果。这些多态性与RA的相关性独立于HLA-DR4。823C与1703G之间以及1703G与1729+55 del 4 TGTG+之间存在连锁不平衡。与对照组相比，RA患者中NRAMP1 823C/1703G/1729+55 del 4 TGTG+的估计单倍型频率显著增加。我们还发现，823 C/C患者的类风湿结节患病率显著低于非823 C/C患者。